Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518799
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs144709443
rs144709443
UBR4
1 19155051 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1480591236
rs1480591236
OBSCN
1 228276699 missense variant C/T snv 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553154130
rs1553154130
RERE
0.807 0.280 1 8358231 missense variant T/A;C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553763618
rs1553763618
POLR3GL
0.925 0.040 1 145977482 splice acceptor variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557523211
rs1557523211
USP24
1 55073913 splice region variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557810606
rs1557810606
CLIC4
1 24814131 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1557853919
rs1557853919
DENND4B
1 153939040 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1558053119
rs1558053119
EDEM3
1 184717581 missense variant A/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs200635937
rs200635937
GPR161
0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs540351799
rs540351799
PTPRU
1 29325243 missense variant A/C snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs559634261
rs559634261
MACF1
1 39318497 missense variant G/A snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs559788899
rs559788899
PTPRU
1 29303909 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs672601334
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs747262678
rs747262678
OBSCN
1 228279343 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs747867083
rs747867083
UBR4
1 19119624 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs748323629
rs748323629
UBR4
1 19151825 missense variant T/C snv 8.0E-06 2.8E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs755081350
rs755081350
MACF1
1 39485559 missense variant G/A snv 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs761960636
rs761960636
UBR4
1 19094058 missense variant G/T snv 3.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs765435034
rs765435034
EDEM3
1 184694431 missense variant C/A snv 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs776593168
rs776593168
UBR4
1 19167086 missense variant G/A;C snv 1.2E-05; 1.2E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs782144677
rs782144677
CHD1L ; LINC00624
1 147285398 frameshift variant A/- del 2.8E-05 2.1E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0